Epigenetics in LMNA-Related Cardiomyopathy
Cells, 2023 Mutations in the gene for lamin A/C (LMNA) cause a diverse range of diseases known as laminopathies. LMNA-related cardiomyopathy is a common inherited heart disease and is highly penetrant with a poor prognosis. In the past years, numerous investigations
Yinuo Wang, Gergana Dobreva
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Revisiting the truncated lamin A produced by a commonly used strain of Lmna knockout mice
Nucleus, 2023 The Lmna knockout mouse (Lmna–/–) created by Sullivan and coworkers in 1999 has been widely used to examine lamin A/C function. The knockout allele contains a deletion of Lmna intron 7–exon 11 sequences and was reported to be a null allele.
Stephen Young, Paul Kim, Yiping Tu
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Creatine and l-carnitine attenuate muscular laminopathy in the LMNA mutation transgenic zebrafish
Scientific ReportsLamin A/C gene (LMNA) mutations contribute to severe striated muscle laminopathies, affecting cardiac and skeletal muscles, with limited treatment options.
Yung-Che Tseng +2 more
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Gene Therapy via Trans-Splicing for LMNA-Related Congenital Muscular Dystrophy
Molecular Therapy - Nucleic Acids, 2018 We assessed the potential of Lmna-mRNA repair by spliceosome-mediated RNA trans-splicing as a therapeutic approach for LMNA-related congenital muscular dystrophy.
Isabelle Nelson +2 more
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Cell-extrinsic defective lymphocyte development in Lmna(-/-) mice. [PDF]
PLoS ONE, 2010 Mutations in the LMNA gene, which encodes all A-type lamins, result in a variety of human diseases termed laminopathies. Lmna(-/-) mice appear normal at birth but become runted as early as 2 weeks of age and develop multiple tissue defects that mimic ...
J Scott Hale +4 more
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Partial Lipodystrophy and LMNA p.R545H Variant [PDF]
Journal of Clinical Medicine, 2021 Laminopathies are disorders caused by LMNA gene mutations, which selectively affect different tissues and organ systems, and present with heterogeneous clinical and pathological traits. The molecular mechanisms behind these clinical differences and tissue specificity have not been fully clarified.
Silvia Magno +12 more
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Membranous glomerulonephritis with an LMNA mutation [PDF]
CEN Case Reports, 2018 We had encountered the case of membranous glomerulonephritis (MGN) with dilated cardiomyopathy due to LMNA gene mutation. LMNA mutation was known as a cause of 'laminopathy' such as dilated cardiomyopathy, muscular dystrophy, neuropathy and so on. LMNA gene might be a candidate of genetic basis in cryptogenic MGN.
Kumi Fujita, Kazuhiro Hatta
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Cardiomyocyte-specific expression of lamin a improves cardiac function in Lmna-/- mice. [PDF]
PLoS ONE, 2012 Lmna(-/-) mice display multiple tissue defects and die by 6-8 weeks of age reportedly from dilated cardiomyopathy with associated conduction defects. We sought to determine whether restoration of lamin A in cardiomyocytes improves cardiac function and ...
Richard L Frock +13 more
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Lipodistrofia Parcial Familiar tipo 2: a propósito de un caso
Galicia Clínica, 2021 UETeM-Molecular Pathology Group, IDIS-CIMUS (Centro de Investigación en Medicina Molecular y Enfermedades Crónicas), Universidadede Santiago de Compostela, Galiza.
David Araújo Vilar +1 more
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Integrated analysis reveals the alterations that LMNA interacts with euchromatin in LMNA mutation-associated dilated cardiomyopathy [PDF]
Clinical Epigenetics, 2021 Abstract Background Dilated cardiomyopathy (DCM) is a serious cardiac heterogeneous pathological disease, which may be caused by mutations in the LMNA gene. Lamins interact with not only lamina-associated domains (LADs) but also euchromatin by alone or associates with the lamina-associated polypeptide 2 alpha (LAP2α ...
Xiaolin Zhang +4 more
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